title: Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
abstract: Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene. We report on two unrelated fathers with severe childhood epilepsy compatible with a possible diagnosis of Dravet syndrome, who both have a child with Dravet syndrome. Analysis of the SCN1A gene revealed a pathogenic mutation in both children. One father exhibited somatic mosaicism for the mutation detected in his son. A relatively favorable cognitive outcome in patients with Dravet syndrome patients may be explained by somatic mosaicism for the SCN1A mutation in brain tissue. A mild form of Dravet syndrome in adult patients is associated with a high recurrence risk and possibly a more severe epilepsy phenotype in their offspring.
authors.affiliation: DBG-Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. n.verbeek@umcutrecht.nl
authors.forename: Nienke E
authors.initials: NE
authors.lastname: Verbeek
authors.forename: Marjan
authors.initials: M
authors.lastname: van Kempen
authors.forename: W Boudewijn
authors.initials: WB
authors.lastname: Gunning
authors.forename: Willy O
authors.initials: WO
authors.lastname: Renier
authors.forename: Birgit
authors.initials: B
authors.lastname: Westland
authors.forename: Dick
authors.initials: D
authors.lastname: Lindhout
authors.forename: Eva H
authors.initials: EH
authors.lastname: Brilstra
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels